chr2:219252208:C>T Detail (hg19) (SLC11A1)

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Information

Genome

Assembly	Position
hg19	chr2:219,252,208-219,252,208
hg38	chr2:218,387,485-218,387,485 View the variant detail on this assembly version.

Type	Transcript	Protein
RefSeq	NM_000578.3:c.572-80C>T
Ensemble	ENST00000233202.11:c.572-80C>T

Summary

Links

Type	Database	ID	Link
Gene	MIM	600266	OMIM
	HGNC	10907	HGNC
	Ensembl	ENSG00000018280	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv10529255	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Active tuberculosis	Multilocus analyses between polymorphisms in SLC11A1 and 11 TB candidate genes d...	BeFree	19723394	Detail
<0.001	Active tuberculosis	Multilocus analyses between polymorphisms in SLC11A1 and 11 TB candidate genes d...	BeFree	19723394	Detail

Annotation

Descrption	Source	Links
Multilocus analyses between polymorphisms in SLC11A1 and 11 TB candidate genes detected interactions...	DisGeNET	Detail
Multilocus analyses between polymorphisms in SLC11A1 and 11 TB candidate genes detected interactions...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs3731863 dbSNP
Genome: hg19
Position: chr2:219,252,208-219,252,208
Variant Type: snv
Reference Allele: C
Alternative Allele: T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): rs3731863
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0541
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 907
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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